Mutagenetix > Incidental Mutation

Incidental Mutation 'R7503:Arsj'

581606

Institutional Source

Beutler Lab

Gene Symbol

Arsj

Ensembl Gene

ENSMUSG00000046561

Gene Name

arylsulfatase J

Synonyms

9330196J05Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R7503 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

126363684-126440375 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 126364844 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 24 (F24S)

Ref Sequence

ENSEMBL: ENSMUSP00000091511 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093976]

AlphaFold

Q8BM89

Predicted Effect

probably benign
Transcript: ENSMUST00000093976
AA Change: F24S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000091511
Gene: ENSMUSG00000046561
AA Change: F24S

Domain	Start	End	E-Value	Type
Pfam:Sulfatase	74	388	8.4e-68	PFAM
low complexity region	554	582	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (63/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Sulfatases (EC 3.1.5.6), such as ARSJ, hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules (Sardiello et al., 2005 [PubMed 16174644]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730559C18Rik	T	C	1: 136,215,937	D587G	possibly damaging	Het
A230072I06Rik	G	A	8: 12,279,554	G3D	unknown	Het
Aif1	A	T	17: 35,171,573	I67N	probably damaging	Het
Akap11	T	C	14: 78,512,001	D982G		Het
Anpep	A	G	7: 79,826,637	L827P	probably damaging	Het
Arhgef5	A	T	6: 43,273,999	K561N	probably benign	Het
Bard1	T	C	1: 71,030,836	D661G	probably damaging	Het
Cc2d2b	A	G	19: 40,794,612	I618V	unknown	Het
Cfap54	T	A	10: 92,887,436		probably null	Het
Cfhr2	T	A	1: 139,831,214	I33F	probably damaging	Het
Dsc1	G	A	18: 20,085,865	H827Y	probably damaging	Het
Eif3i	C	T	4: 129,600,414	D31N	probably damaging	Het
Eno1b	A	T	18: 48,046,811	T19S	probably damaging	Het
Eva1a	G	A	6: 82,071,229	W29*	probably null	Het
Evc	T	C	5: 37,300,767	K803R	unknown	Het
F5	T	A	1: 164,192,210	N751K	probably damaging	Het
Fam120a	A	T	13: 48,949,247	N177K	probably benign	Het
Farp2	T	G	1: 93,567,497	I164R	probably benign	Het
Gm20379	C	T	13: 92,306,057	P26L		Het
Gm4778	A	T	3: 94,266,473	M259L	probably benign	Het
Hmgcs2	T	C	3: 98,302,624	S433P	probably damaging	Het
Ints2	T	C	11: 86,232,055	T633A	probably benign	Het
Invs	C	T	4: 48,396,347	T340M	probably damaging	Het
Mef2c	A	C	13: 83,662,504	D391A	possibly damaging	Het
Msh4	A	C	3: 153,867,750	S756A	probably damaging	Het
Mylk3	T	C	8: 85,353,589	T490A	probably benign	Het
Myo1b	A	T	1: 51,776,602		probably null	Het
Nsmce1	A	G	7: 125,471,934	S107P	probably benign	Het
Olfr1173	T	C	2: 88,274,695	Y118C	probably damaging	Het
Olfr628	T	A	7: 103,732,267	S114T	probably damaging	Het
Pcdhb21	G	A	18: 37,514,975	D386N	probably benign	Het
Pcdhb22	T	G	18: 37,519,102	L208V	probably benign	Het
Pigu	C	T	2: 155,331,144		probably null	Het
Plcz1	T	A	6: 139,990,748	E585V	probably damaging	Het
Pnpla7	C	A	2: 24,983,532	C183*	probably null	Het
Pomgnt1	T	C	4: 116,152,752	V133A	possibly damaging	Het
Prl3d3	A	G	13: 27,161,113	Y156C	probably benign	Het
Prpf39	A	G	12: 65,053,393	D280G	probably benign	Het
Recql5	C	A	11: 115,895,055	A631S	probably benign	Het
Runx3	C	A	4: 135,155,368	N138K	probably damaging	Het
Scaper	T	C	9: 55,807,754	D750G	probably damaging	Het
Slc16a3	T	C	11: 120,957,027	L347P	probably damaging	Het
Slc25a1	G	T	16: 17,926,439	Y209*	probably null	Het
Smad2	A	G	18: 76,286,885	S88G	probably benign	Het
Sorcs1	A	G	19: 50,153,052	C1125R	probably benign	Het
Spata21	T	A	4: 141,095,303	I140N	probably benign	Het
Speer3	A	T	5: 13,793,334	D85V	probably benign	Het
Stra6	A	G	9: 58,151,245	N463S	possibly damaging	Het
Tmem14a	T	G	1: 21,229,399		probably null	Het
Tsc1	T	A	2: 28,687,076	L1130Q	possibly damaging	Het
Ttn	T	C	2: 76,781,057	D17377G	possibly damaging	Het
Utf1	A	G	7: 139,944,133	D87G	probably damaging	Het
Vmn2r6	G	A	3: 64,539,951	Q565*	probably null	Het
Vmn2r63	A	T	7: 42,933,590	M67K	probably benign	Het
Vmn2r90	T	C	17: 17,713,248	Y357H	not run	Het
Vmn2r97	A	G	17: 18,928,208	T122A	probably benign	Het
Wdhd1	T	C	14: 47,250,791	E753G	probably benign	Het
Wdr11	A	G	7: 129,603,110	N213S	probably benign	Het
Wdr66	G	T	5: 123,297,458	E994*	probably null	Het
Xdh	A	C	17: 73,926,210	D207E	probably damaging	Het
Zfp281	T	A	1: 136,626,940	I552N	possibly damaging	Het
Zzef1	T	A	11: 72,826,067	I361K	probably damaging	Het

Other mutations in Arsj

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00534:Arsj	APN	3	126364945	missense	probably benign	0.00
IGL01150:Arsj	APN	3	126438784	missense	probably benign
IGL01337:Arsj	APN	3	126365114	missense	probably damaging	1.00
IGL01446:Arsj	APN	3	126438814	missense	probably benign	0.01
IGL01484:Arsj	APN	3	126365036	missense	probably damaging	1.00
IGL02479:Arsj	APN	3	126438939	missense	possibly damaging	0.91
IGL03149:Arsj	APN	3	126439404	utr 3 prime	probably benign
R0552:Arsj	UTSW	3	126439344	missense	probably benign	0.01
R0690:Arsj	UTSW	3	126438184	missense	probably damaging	0.99
R1809:Arsj	UTSW	3	126438295	missense	possibly damaging	0.87
R1881:Arsj	UTSW	3	126438837	missense	probably damaging	1.00
R1940:Arsj	UTSW	3	126438346	missense	probably damaging	1.00
R1957:Arsj	UTSW	3	126439021	missense	probably benign	0.08
R2156:Arsj	UTSW	3	126438688	missense	probably damaging	1.00
R2969:Arsj	UTSW	3	126439372	missense	probably benign	0.01
R3432:Arsj	UTSW	3	126364975	missense	probably benign	0.00
R4623:Arsj	UTSW	3	126364796	missense	probably benign	0.00
R4826:Arsj	UTSW	3	126438802	missense	probably damaging	1.00
R4955:Arsj	UTSW	3	126438540	missense	probably benign	0.15
R5134:Arsj	UTSW	3	126438154	missense	probably benign
R5164:Arsj	UTSW	3	126438159	missense	probably benign	0.00
R5468:Arsj	UTSW	3	126438388	missense	possibly damaging	0.52
R5664:Arsj	UTSW	3	126438657	missense	probably damaging	1.00
R6136:Arsj	UTSW	3	126364775	start codon destroyed	probably null	0.07
R7030:Arsj	UTSW	3	126439103	missense	probably damaging	1.00
R7036:Arsj	UTSW	3	126365000	missense	probably damaging	0.99
R7064:Arsj	UTSW	3	126438337	missense	probably damaging	1.00
R7555:Arsj	UTSW	3	126438236	nonsense	probably null
R7956:Arsj	UTSW	3	126438502	missense	probably damaging	1.00
R8765:Arsj	UTSW	3	126439132	missense	probably benign	0.00
R9218:Arsj	UTSW	3	126438465	missense	probably benign	0.00
R9368:Arsj	UTSW	3	126439096	missense	probably damaging	1.00
R9675:Arsj	UTSW	3	126438116	missense	probably damaging	1.00
R9707:Arsj	UTSW	3	126438511	missense	possibly damaging	0.72
X0022:Arsj	UTSW	3	126364966	missense	possibly damaging	0.52
Z1088:Arsj	UTSW	3	126439132	missense	possibly damaging	0.93
Z1177:Arsj	UTSW	3	126438909	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCCAGAGGATTGAAGTTGTGG -3'
(R):5'- TCTCAGATCCGTGGTAACCC -3'

Sequencing Primer
(F):5'- AGCAGGATTCCCTCGCAG -3'
(R):5'- TCTAAATCCCTGATCATCAGCTAAG -3'

Posted On

2019-10-17